chr4:55593661:T>C Detail (hg19) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,593,661-55,593,661
hg38 chr4:54,727,495-54,727,495 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000222.2:c.1727T>C NP_000213.1:p.Leu576Pro
NM_001093772.1:c.1718T>C NP_001087241.1:p.Leu573Pro
Ensemble ENST00000288135.6:c.1727T>C ENST00000288135.6:p.Leu576Pro
Summary

MGeND

Clinical significance not provided
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 164920 OMIM
HGNC 6342 HGNC
Ensembl ENSG00000157404 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1290 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided stomach, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided retroperitoneum not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2015-07-14 no assertion criteria provided melanoma somatic Detail
not provided 2016-03-10 no assertion provided Non-small cell lung carcinoma somatic Detail
Likely pathogenic 2019-07-11 criteria provided, single submitter gastrointestinal stromal tumor germline somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided thymoma somatic Detail
Pathogenic 2021-09-07 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung non-small cell carcinoma Dasatinib,Nilotinib,Imatinib D Predictive Supports Sensitivity/Response Somatic 3 17372901 Detail
melanoma Nilotinib,Imatinib,Sorafenib D Predictive Supports Resistance Somatic 3 19671763 Detail
gastrointestinal stromal tumor Sunitinib C Predictive Supports Resistance Somatic 2 18955458 Detail
cancer Dasatinib,Imatinib D Predictive Supports Sensitivity/Response Somatic 2 25317746 Detail
melanoma Dasatinib D Predictive Supports Sensitivity/Response Somatic 3 19671763 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Undifferentiated (Embryonal) Sarcoma Our results revealed 2 mutations in 2 recurrent lesion samples, including one in... BeFree 25120743 Detail
<0.001 Undifferentiated (Embryonal) Sarcoma Our results revealed 2 mutations in 2 recurrent lesion samples, including one in... BeFree 25120743 Detail
0.068 melanoma Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, an... BeFree 19671763 Detail
0.760 Gastrointestinal Stromal Tumors Activate and resist: L576P-KIT in GIST. BeFree 19723893 Detail
0.068 melanoma L576P KIT mutation in anal melanomas correlates with KIT protein expression and ... BeFree 17372901 Detail
0.760 Gastrointestinal Stromal Tumors A novel germline KIT mutation (p.L576P) in a family presenting with juvenile ons... BeFree 23598963 Detail
0.003 Thymoma, type C The mutational analysis of KIT revealed only a missense mutation (L576P) in exon... BeFree 18448188 Detail
<0.001 Esophageal Stenosis A novel germline KIT mutation (p.L576P) in a family presenting with juvenile ons... BeFree 23598963 Detail
Annotation

Annotations

DescrptionSourceLinks
Ba/F3 cells harboring the KIT L576P mutation are sensitive to nilotinib, imatinib and lower concentr... CIViC Evidence Detail
The melanoma cell line WM3211, which harbors the L576P mutation, is not sensitive to imatinib, nilot... CIViC Evidence Detail
Patient 29 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant ... CIViC Evidence Detail
In an in vitro study, COS-7 cells expressing KIT L576P activating mutation demonstrated sensitivity ... CIViC Evidence Detail
The melanoma cell line WM3211, which harbors the L576P mutation, is sensitive to dasatinib. Molecula... CIViC Evidence Detail
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) AND Melanoma ClinVar Detail
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) AND Non-small cell lung carcinoma ClinVar Detail
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) AND Gastrointestinal stromal tumor ClinVar Detail
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) AND Thymoma ClinVar Detail
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) AND Hereditary cancer-predisposing syndrome ClinVar Detail
Our results revealed 2 mutations in 2 recurrent lesion samples, including one in exon 11 of the KIT ... DisGeNET Detail
Our results revealed 2 mutations in 2 recurrent lesion samples, including one in exon 11 of the KIT ... DisGeNET Detail
Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlate... DisGeNET Detail
Activate and resist: L576P-KIT in GIST. DisGeNET Detail
L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to spec... DisGeNET Detail
A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastr... DisGeNET Detail
The mutational analysis of KIT revealed only a missense mutation (L576P) in exon 11 of one thymic ca... DisGeNET Detail
A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastr... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121913513 dbSNP
Genome
hg19
Position
chr4:55,593,661-55,593,661
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
L576P
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/72
Summary (CIViC Variant)
KIT L576P is an exon 11 mutation that lies within the juxtamembrane domain. It is one of the most recurrent KIT mutations in melanoma, and both in vitro and in vivo studies have shown sensitivity to imatinib.
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